Hereditary aceruloplasminemia (HA) is a rare inherited disease characterized by anemia, iron overload, diabetes, and neurodegeneration. HA is caused by the homozygous mutation of the ceruloplasmin (CP) gene. We report two siblings with markedly different phenotypes carrying a novel mutation: a homozygous deletion of two nucleotides (1257-1258 TT del) causing the premature stop of the Cp protein translation (Y401X). An early diagnosis of iron overload was made in the female sibling who was subsequently treated with deferoxamine. At the age of 54, her neurologic symptoms were limited to mild akinetic signs and a history of seizures; moreover, her fasting blood glucose level never exceeded 120 mg/dL. The male sibling, who had not received any specific treatment for HA, developed severe diabetes at the age of 32 and at 48 manifested a progressively disabling neurologic disease. Possible physiopathological bases of these intrafamilial phenotypic variations are discussed.

Fasano, A., Colosimo, C., Miyajima, H., Tonali, P. A., Re, T., Bentivoglio, A. R., Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability, <<MOVEMENT DISORDERS>>, 2008; 23 (5): 751-755. [doi:10.1002/mds.21938] [http://hdl.handle.net/10807/31240]

Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability

Fasano, Alfonso;Colosimo, Cesare;Tonali, Pietro Attilio;Bentivoglio, Anna Rita
2008

Abstract

Hereditary aceruloplasminemia (HA) is a rare inherited disease characterized by anemia, iron overload, diabetes, and neurodegeneration. HA is caused by the homozygous mutation of the ceruloplasmin (CP) gene. We report two siblings with markedly different phenotypes carrying a novel mutation: a homozygous deletion of two nucleotides (1257-1258 TT del) causing the premature stop of the Cp protein translation (Y401X). An early diagnosis of iron overload was made in the female sibling who was subsequently treated with deferoxamine. At the age of 54, her neurologic symptoms were limited to mild akinetic signs and a history of seizures; moreover, her fasting blood glucose level never exceeded 120 mg/dL. The male sibling, who had not received any specific treatment for HA, developed severe diabetes at the age of 32 and at 48 manifested a progressively disabling neurologic disease. Possible physiopathological bases of these intrafamilial phenotypic variations are discussed.
2008
Inglese
Fasano, A., Colosimo, C., Miyajima, H., Tonali, P. A., Re, T., Bentivoglio, A. R., Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability, <<MOVEMENT DISORDERS>>, 2008; 23 (5): 751-755. [doi:10.1002/mds.21938] [http://hdl.handle.net/10807/31240]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/31240
Citazioni
  • ???jsp.display-item.citation.pmc??? 7
  • Scopus 50
  • ???jsp.display-item.citation.isi??? ND
social impact